Abstract

Overall, theories rather than experimentally verified data are available concerning the formation of CG-CNVs. In acrocentric short arm and Yq12 size variants translocations are involved. Also, parts of size variations in other heterochromatic CG-CNVs also may be due to unequal crossing-over events. Still, how amplification or complete loss of heterochromatic CG-CNVs can be explained remains widely unclear, even though in most cases the so-called breakage-fusion-bridge model is thought to be responsible.

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